(Q35201707)

English

Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

based on heuristic

inferred from title

multiple carboxylase deficiency

1 reference

based on heuristic

inferred from title

author name string

G L Feldman

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Y E Hsia

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

B Wolf

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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1 September 1981

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

33

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

692-701

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Beta-methylcrotonic aciduria associated with lactic acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Biotin-responsive alopecia and developmental regression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685129

13 July 2018

Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotin activation of carboxylase activity in cultured fibroblasts from a child with a combined carboxylase defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of pyruvate carboxylase activity in amniotic fluid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on pyruvate carboxylase from cultured human fibroblasts and amniotic fluid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/6794361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6794361%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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